Incidental Mutation 'R2842:Rsph10b'
| ID |
254317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsph10b
|
| Ensembl Gene |
ENSMUSG00000075569 |
| Gene Name |
radial spoke head 10 homolog B (Chlamydomonas) |
| Synonyms |
4930526H21Rik, Rsph10b2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R2842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143869853-143922537 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 143916710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 310
(V310G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166847]
[ENSMUST00000212711]
|
| AlphaFold |
E9PYQ0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164604
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166847
AA Change: V732G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132687
Gene: ENSMUSG00000075569
AA Change: V732G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
|
MORN
|
107 |
128 |
5.9e-7 |
SMART |
|
MORN
|
130 |
151 |
9.35e-1 |
SMART |
|
MORN
|
153 |
174 |
1.23e0 |
SMART |
|
MORN
|
177 |
198 |
1.84e0 |
SMART |
|
MORN
|
202 |
223 |
3.21e1 |
SMART |
|
MORN
|
225 |
246 |
1.67e-6 |
SMART |
|
MORN
|
249 |
270 |
1.85e1 |
SMART |
|
MORN
|
282 |
303 |
2.71e-6 |
SMART |
|
MORN
|
305 |
326 |
3.53e-5 |
SMART |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
649 |
N/A |
INTRINSIC |
|
coiled coil region
|
787 |
841 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167009
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212711
AA Change: V310G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
| Arl8a |
T |
C |
1: 135,082,989 (GRCm39) |
S181P |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,387,734 (GRCm39) |
S396P |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,348 (GRCm39) |
V1541A |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,846,681 (GRCm39) |
K295* |
probably null |
Het |
| Frem3 |
T |
A |
8: 81,395,978 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
C |
3: 88,802,794 (GRCm39) |
V1135A |
probably damaging |
Het |
| Gprc5b |
G |
A |
7: 118,583,302 (GRCm39) |
T189M |
possibly damaging |
Het |
| Gucy2g |
C |
T |
19: 55,229,379 (GRCm39) |
C97Y |
probably damaging |
Het |
| Heatr5a |
T |
A |
12: 52,002,261 (GRCm39) |
K225M |
probably null |
Het |
| Heatr5a |
C |
T |
12: 52,002,260 (GRCm39) |
|
probably null |
Het |
| Insr |
A |
G |
8: 3,252,986 (GRCm39) |
I391T |
probably damaging |
Het |
| Lce1e |
T |
A |
3: 92,615,056 (GRCm39) |
H97L |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,270,210 (GRCm39) |
V6647A |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,650,537 (GRCm39) |
R399G |
probably damaging |
Het |
| Mast4 |
C |
A |
13: 102,872,939 (GRCm39) |
S1951I |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,159,686 (GRCm39) |
P648S |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,638,279 (GRCm39) |
F410L |
probably benign |
Het |
| Nr2e1 |
T |
C |
10: 42,444,441 (GRCm39) |
R223G |
probably damaging |
Het |
| Otud7b |
G |
A |
3: 96,043,905 (GRCm39) |
E19K |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,512,727 (GRCm39) |
S9P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,192,566 (GRCm39) |
|
probably null |
Het |
| Prkag3 |
T |
C |
1: 74,780,334 (GRCm39) |
I444V |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,061,097 (GRCm39) |
Y135H |
probably damaging |
Het |
| Tox2 |
G |
A |
2: 163,046,550 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Wfikkn2 |
G |
A |
11: 94,129,085 (GRCm39) |
T352I |
probably benign |
Het |
|
| Other mutations in Rsph10b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Rsph10b
|
APN |
5 |
143,873,905 (GRCm39) |
makesense |
probably null |
|
|
K7894:Rsph10b
|
UTSW |
5 |
143,881,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Rsph10b
|
UTSW |
5 |
143,896,639 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0149:Rsph10b
|
UTSW |
5 |
143,875,727 (GRCm39) |
unclassified |
probably benign |
|
|
R0326:Rsph10b
|
UTSW |
5 |
143,903,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Rsph10b
|
UTSW |
5 |
143,886,156 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1185:Rsph10b
|
UTSW |
5 |
143,903,280 (GRCm39) |
splice site |
probably benign |
|
|
R1185:Rsph10b
|
UTSW |
5 |
143,903,280 (GRCm39) |
splice site |
probably benign |
|
|
R1712:Rsph10b
|
UTSW |
5 |
143,873,967 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1832:Rsph10b
|
UTSW |
5 |
143,903,997 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1909:Rsph10b
|
UTSW |
5 |
143,922,309 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2044:Rsph10b
|
UTSW |
5 |
143,904,068 (GRCm39) |
splice site |
probably null |
|
|
R2155:Rsph10b
|
UTSW |
5 |
143,898,074 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3805:Rsph10b
|
UTSW |
5 |
143,895,206 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4031:Rsph10b
|
UTSW |
5 |
143,922,486 (GRCm39) |
splice site |
probably null |
|
|
R4792:Rsph10b
|
UTSW |
5 |
143,874,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Rsph10b
|
UTSW |
5 |
143,885,347 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6090:Rsph10b
|
UTSW |
5 |
143,913,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6252:Rsph10b
|
UTSW |
5 |
143,873,939 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6255:Rsph10b
|
UTSW |
5 |
143,896,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6518:Rsph10b
|
UTSW |
5 |
143,900,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Rsph10b
|
UTSW |
5 |
143,886,102 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7206:Rsph10b
|
UTSW |
5 |
143,898,010 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7337:Rsph10b
|
UTSW |
5 |
143,898,033 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7353:Rsph10b
|
UTSW |
5 |
143,904,038 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7567:Rsph10b
|
UTSW |
5 |
143,886,244 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8022:Rsph10b
|
UTSW |
5 |
143,904,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8109:Rsph10b
|
UTSW |
5 |
143,922,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8275:Rsph10b
|
UTSW |
5 |
143,903,323 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8679:Rsph10b
|
UTSW |
5 |
143,887,112 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8947:Rsph10b
|
UTSW |
5 |
143,913,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9020:Rsph10b
|
UTSW |
5 |
143,922,283 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9189:Rsph10b
|
UTSW |
5 |
143,896,504 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9319:Rsph10b
|
UTSW |
5 |
143,903,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Rsph10b
|
UTSW |
5 |
143,913,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAGAACTGCAGGCTTGG -3'
(R):5'- GCTGGTGCTACATTAGTGCTCTAG -3'
Sequencing Primer
(F):5'- TTGGGGCTAGCCTGAGACAC -3'
(R):5'- ACATTAGTGCTCTAGTGCCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation